1. Amir N, Smith LD, Valentine AM, Mitra M, Parish SL, Moore Simas TA. Clinician perspectives on the need for training on caring for pregnant women with intellectual and developmental disabilities. Disability and health journal. 2022; 15(2): 101262.

BACKGROUND: Women with intellectual and developmental disabilities (IDDs) experience disparities in obstetric care access and quality, in addition to communication gaps with healthcare providers. Many obstetric providers are untrained and uneducated about critical aspects of providing care to persons with IDDs. OBJECTIVE: The study was conducted to describe obstetric clinicians’ training experiences related to providing obstetric care to women with IDDs, to assess the perceived need for formalized training, and to identify recommendations for training content. METHODS: This study involved qualitative individual interviews (n = 9) and one focus group (n = 8) with obstetric clinicians who self-reported experience caring for women with IDDs during pregnancy. Descriptive coding and content analysis techniques were used to develop an iterative codebook related to education and training; codes were applied to the data. Coded data were analyzed for larger themes and relationships. RESULTS: Analysis revealed three main themes: 1. Need for obstetric training and education: No participant reported receiving any training in caring for pregnant women with IDDs. Participants expressed a need for formal education. 2. Recommendations for formal training: Participants noted the need for training during residency and beyond, and all healthcare staff members should be included in training. 3. Training outcomes should increase knowledge, enhance attitudes, and develop practical skills related to care for pregnant women with IDDs. CONCLUSION: Results indicate a need for systematic training efforts regarding obstetric care for women with IDDs. Improved training and education may decrease health inequities and improve the quality of care, and thus pregnancy outcomes, for women with IDDs. LEVEL OF EVIDENCE: VI.

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2. Burrell TL, Scahill L, Nuhu N, Gillespie S, Sharp W. Exploration of Treatment Response in Parent Training for Children with Autism Spectrum Disorder and Moderate Food Selectivity. Journal of autism and developmental disorders. 2022.

Managing Eating Aversions and Limited Variety (MEAL) Plan is a structured parent-mediated intervention for children with autism spectrum disorder and moderate food selectivity. Our previously reported group-based clinical trial revealed a positive treatment response rate of 47.3%. Although encouraging, this response rate raises questions about factors that may affect treatment outcomes. Here, we examine the impact of child and parent characteristics and feeding behaviors on treatment response. Higher maternal education and higher child communication abilities at baseline were associated with positive treatment response. Improvement in sitting at the table and reductions in disruptive mealtime behavior promoted treatment success. Results also suggest that individually delivered MEAL Plan may offer more flexibility than group-based intervention for some parents.

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3. Cheong PL, Tsai JM, Wu YT, Lu L, Chiu YL, Shen YT, Li YJ, Tsao CH, Wang YC, Chang FM, Huang YH, Sun CW. Cultural Adaptation and Validation of Mullen Scales of Early Learning in Taiwanese children with Autism Spectrum Disorder, Global Developmental Delay, and Typically Developing Children. Research in developmental disabilities. 2022; 122: 104158.

BACKGROUND: The Mullen Scales of Early Learning (MSEL) is a standardized comprehensive developmental assessment tool for children aged 0-68 months. However, few Asia-based studies have explored cultural and linguistic adaptations of the MSEL or investigated its psychometric properties in populations with autism spectrum disorder (ASD). AIMS: This study evaluated the reliability and validity of the MSEL-Taiwan version (MSEL-T) for Taiwanese children with ASD, global developmental delay (GDD), and typical development (TD). METHODS AND PROCEDURES: The MSEL items were translated and modified according to the language and culture in Taiwan. In total, 191 children (ASD, 69; GDD, 36; and TD, 86) aged 19-68 months were assessed using the MSEL-T and Peabody Developmental Motor Scales 2 (PDMS-2) at enrollment, followed by the assessments of Vineland Adaptive Behavior Scale-Chinese version (VABS-C) at the age of 36 months or later. OUTCOMES AND RESULTS: All subscales were verified to have good interrater reliability and internal consistency, and subscale scores indicated moderate to high correlations with PDMS-2 and VABS-C scores. Significant differences in MSEL-T scores were observed between same-aged pairs of children with TD and GDD and between pairs of children with TD and ASD. CONCLUSIONS AND IMPLICATIONS: The findings provide evidence of validity and reliability of the MSEL-T. And it is suggested that the culturally and linguistically adapted MSEL-T is a good tool for the clinical assessment of children with and without ASD.

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4. Korotkov A, Luinenburg MJ, Romagnolo A, Zimmer TS, van Scheppingen J, Bongaarts A, Broekaart DWM, Anink JJ, Mijnsbergen C, Jansen FE, van Hecke W, Spliet WG, van Rijen PC, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Crino PB, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Mühlebner A, van Vliet EA, Mills JD, Aronica E. Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period. Journal of neurodevelopmental disorders. 2022; 14(1): 8.

BACKGROUND: The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers, and recurrent epileptic seizures (in 70-80% cases). Previous transcriptomic analysis of cortical tubers revealed dysregulation of genes involved in cell adhesion in the brain, which may be associated with the neurodevelopmental deficits in TSC. In this study we aimed to investigate the expression of one of these genes – cell-adhesion molecule contactin-3. METHODS: Reverse transcription quantitative polymerase chain reaction for the contactin-3 gene (CNTN3) was performed in resected cortical tubers from TSC patients with drug-resistant epilepsy (n = 35, age range: 1-48 years) and compared to autopsy-derived cortical control tissue (n = 27, age range: 0-44 years), as well as by western blot analysis of contactin-3 (n = 7 vs n = 7, age range: 0-3 years for both TSC and controls) and immunohistochemistry (n = 5 TSC vs n = 4 controls). The expression of contactin-3 was further analyzed in fetal and postnatal control tissue by western blotting and in-situ hybridization, as well as in the SH-SY5Y neuroblastoma cell line differentiation model in vitro. RESULTS: CNTN3 gene expression was lower in cortical tubers from patients across a wide range of ages (fold change = - 0.5, p < 0.001) as compared to controls. Contactin-3 protein expression was lower in the age range of 0-3 years old (fold change = - 3.8, p < 0.001) as compared to the age-matched controls. In control brain tissue, contactin-3 gene and protein expression could be detected during fetal development, peaked around birth and during infancy and declined in the adult brain. CNTN3 expression was induced in the differentiated SH-SY5Y neuroblastoma cells in vitro (fold change = 6.2, p < 0.01). CONCLUSIONS: Our data show a lower expression of contactin-3 in cortical tubers of TSC patients during early postnatal period as compared to controls, which may affect normal brain development and might contribute to neuropsychiatric co-morbidities observed in patients with TSC.

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5. Schiltz HK, Fenning RM, Erath SA, Baucom BRW, Baker JK. Electrodermal Activity Moderates Sleep-Behavior Associations in Children with Autism Spectrum Disorder. Research on child and adolescent psychopathology. 2022.

Relative to children without autism spectrum disorder (ASD), children with ASD experience elevated sleep problems that can contribute to behavioral comorbidities. This study explored the interaction between psychophysiology and sleep to determine which children with ASD may be at risk for, or resilient to, effects of poor sleep on daytime behavior. Participants included 48 children (aged 6-10 years) with ASD. Measures of sympathetic nervous system activity (electrodermal activity; EDA) were collected during a baseline and in response to a laboratory challenge task. Parents reported on their children’s sleep problems and behavioral functioning, including broad externalizing symptoms and situational noncompliance, using standardized questionnaires and a clinical interview. EDA moderated the significant positive associations between sleep problems and both behavioral outcomes. The link between sleep problems and broad externalizing symptoms and situational noncompliance was positive and significant in the context of lower baseline EDA and nonsignificant in the context of higher baseline EDA. Sleep problems also interacted with EDA reactivity in predicting situational noncompliance, but not broad externalizing symptoms. Findings highlight the complex interplay among sleep, daytime behavior, and psychophysiology in children with ASD. Results are interpreted in the context of differential susceptibility and dual-risk frameworks. This study underscores the importance of high-quality sleep for children with ASD, especially those with the biological sensitivity or vulnerability factors (i.e., EDA) identified in this study. Clinical implications are discussed, and directions for future research are provided.

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6. Sung K, Glazer H, O’Grady J, McEntee ML, Bosley L, Reich DB, Gordon B. Measuring visual electrophysiological responses in individuals with low-functioning autism: a feasibility and pilot study. Pilot and feasibility studies. 2022; 8(1): 7.

BACKGROUND: Although visual abnormalities are considered common in individuals with autism spectrum disorders, the associated electrophysiological markers have remained elusive. One impediment has been that methodological challenges often preclude testing individuals with low-functioning autism (LFA). METHODS: In this feasibility and pilot study, we tested a hybrid visual evoked potential paradigm tailored to individuals with LFA that combines passively presented visual stimuli to elicit scalp-recorded evoked responses with a behavioral paradigm to maintain visual attention. We conducted a pilot study to explore differences in visual evoked response patterns across three groups: individuals with LFA, with high-functioning autism (HFA), and with typical development. RESULTS: All participants with LFA met criteria for study feasibility by completing the recordings and producing measurable cortical evoked waveform responses. The LFA group had longer (delayed) cortical response latencies on average as compared with the HFA and typical development groups. We also observed group differences in visually induced alpha spectral power: the LFA group showed little to no prestimulus alpha activity in contrast to the HFA and typical development groups that showed increased prestimulus alpha activity. This observation was confirmed by the bootstrapped confidence intervals, suggesting that the absence of prestimulus alpha power may be a potential electrophysiological marker of LFA. CONCLUSION: Our results confirm the utility of tailoring visual electrophysiology paradigms to individuals with LFA in order to facilitate inclusion of individuals across the autism spectrum in studies of visual processing.

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7. Taylor BP, Liu J, Mowrey W, Eule E, Bolognani F, Hollander E. The Montefiore-Einstein Rigidity Scale-Revised (MERS-R): Development, administration, reliability, and validity in child and adult Autism Spectrum Disorder (ASD). Journal of psychiatric research. 2022; 147: 142-7.

BACKGROUND: Rigidity contributes to severity and functional impairment in autism spectrum disorder (ASD). There is an unmet need for a valid, reliable, and sensitive outcome measure to assess rigidity in ASD. OBJECTIVE: To develop and validate the Montefiore-Einstein Rigidity Scale-Revised (MERS-R) to assess the Behavioral Rigidity Domain (BRD), Cognitive Rigidity Domain (CRD), and Protest Domain (PD). MATERIALS AND METHODS: The MERS-R was administered to 93 individuals with ASD (children and adults, high and low IQ) at baseline, Week 2, and Week 12. Internal consistency was assessed for domain scores, Total Rigidity Composite (TRC = BRD + CRD), and Total Composite (TC = BRD + CRD + PD) with Cronbach’s α. Intraclass correlation coefficients (ICCs) assessed test-retest reliability from baseline to weeks 2 and 12. Pearson’s correlations assessed the relationship between the MERS-R and age, sex, and IQ. Convergent validity assessed the correlation of MERS-R scores to the Children’s Yale-Brown Obsessive-Compulsive Scale-ASD (CY-BOCS-ASD). RESULTS: Good internal consistency was demonstrated for the BRD, PD, TRC and TC (Cronbach’s α = 0.83, 0.88, 0.82, and 0.89, respectively) and adequate internal consistency for the CRD (α = .72). Good or excellent test-test reliability was demonstrated over two weeks (ICC: 0.66─.79), and fair or good reliability over 12 weeks (ICC: 0.56-66). MERS-R scores did not differ by age, sex, or IQ (p: 0.16─.99) with the exception that higher PD scores were associated with younger age (correlation = -0.25, p = 0.01). Significant convergent validity was demonstrated between all MERS-R scores and the CY-BOCS-ASD (p < 0.0001). DISCUSSION: The MERS-R demonstrated internal consistency, test-retest reliability, convergent validity and applicability to autistic children and adults of different sexes and IQ levels. It is a valid, sensitive, and reliable instrument to measure behavioral and cognitive rigidity in ASD.

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